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2. Clinical features and follow-up in patients with 22q11.2 deletion syndrome

Author

Cancrini, C, Puliafito, P, Digilio, M, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, E, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, A, Pietrogrande, M, Marino, B, Ugazio, A, Plebani, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, M, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, R, Cossu, F, Del Giacco, S, Manconi, P, Consarino, C, Dello Russo, A, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, R, Panisi, C, Fabio, G, Carrabba, M, Roncarolo, M, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, P, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D, Cancrini, C, Puliafito, P, Digilio, Mc, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, Em, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, Alessandro, Pietrogrande, Mc, Marino, B, Ugazio, Ag, Plebani, A, Rossi, P., Cancrini, Caterina, Puliafito, Pamela, Digilio, Maria Cristina, Soresina, Annarosa, Martino, Silvana, Rondelli, Roberto, Consolini, Rita, Ruga, Ezia Maria, Cardinale, Fabio, Finocchi, Andrea, Romiti, Maria Luisa, Martire, Baldassarre, Bacchetta, Rosa, Albano, Veronica, Carotti, Adriano, Specchia, Fernando, Montin, Davide, Cirillo, Emilia, Cocchi, Guido, Trizzino, Antonino, Bossi, Grazia, Milanesi, Ornella, Azzari, Chiara, Corsello, Giovanni, Pignata, Claudio, Pietrogrande, Maria Cristina, Marino, Bruno, Ugazio, Alberto Giovanni, Plebani, Alessandro, Rossi, Paolo, Aiuti, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, Mg, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, Rm, Cossu, F, Del Giacco, S, Manconi, Pe, Consarino, C, Dello Russo, Am, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, Rm, Panisi, C, Fabio, G, Carrabba, M, Pietrogrande, M, Roncarolo, Mg, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, Paolo, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D., Cancrini, C., Pulisfito, P., Digilio, M. C., Soresina, A., Martino, S., Rondelli, R., Consolini, R., Ruga, E. M., C. a. r. d. i. n. a. l. e., F., Finocchi, A., Romiti, M. L., Martire, B., Bacchetta, R., Albano, V., Carotti, A., Specchia, F., Montin, D., Cocchi, G., Trizzino, A., Bossi, G., Milanesi, O., Azzari, C., Corsello, G., Aiuti, A., Pietrogrande, M. C., Marino, B., Ugazio, A. G., Plebani, A., Digilio, MC, Ruga, EM, Romiti, ML, trizzino, A, Aiuti, Pietrogrande, MC, and Ugazio, AG

Subjects
Male, Pediatrics, 22q11.2 deletion, Delayed Diagnosis, Time Factors, Chromosomes, Human, Pair 22, Developmental Disabilities, digeorge syndrome, Sex Factor, Severity of Illness Index, Retrospective Studie, DiGeorge syndrome, Early Diagnosi, Age Factor, Prospective Studies, Neonatal hypocalcemia, Prospective cohort study, Child, medicine.diagnostic_test, Delayed Diagnosi, Primary immune disorders, Age Factors, del 22q, MIM, Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, DiGeorge Syndrome, Early Diagnosis, Female, Follow-Up Studies, Genetic Testing, Humans, Infant, Infant, Newborn, Monitoring, Physiologic, Retrospective Studies, Risk Assessment, Sex Factors, Young Adult, Disease Progression, Cohort, Abnormalities, Multiple, Pediatrics, Perinatology and Child Health, Human, medicine.medical_specialty, Time Factor, Monitoring, Developmental Disabilitie, Italian Association of Pediatric Haematology and Oncology, Context (language use), Chromosomes, Follow-Up Studie, Severity of illness, medicine, 22q11DS, 22q11.2 deletion syndrome, AIEOP, Mendelian Inheritance in Man, Preschool, Physiologic, Genetic testing, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, Retrospective cohort study, medicine.disease, Newborn, Prospective Studie, Pair 22, business
Abstract

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations ( P = .015) and speech disorders ( P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. Conclusions Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.

Published
2014

3. Antibiotic use and impact on outcome from bacteraemic critical illness: the BActeraemia Study in Intensive Care (BASIC)

Author

Corona, A, Bertolini, G, Lipman, J, Wilson, Ap, Singer, M, Rodriguez, A, Cueto, G, Canales, Hs, Acosta Gnass, S, Marinoni, M, Becherucci, A, Baccaro, F, Peake, S, Reece, G, Blythe, D, Mcfayden, B, French, C, Hawker, F, Dobb, G, Seppelt, I, Finfer, S, Skowronski, G, Banerjee, A, Richards, B, Neumark, G, Hiesmayr, M, Rutraert, P, Franck, S, Spapen, H, Ludovic, L, Bruzzi de Carvalho, F, Souza, P, Gasparovic, V, Barsic, B, Chytra, I, Novak, I, Pestel, G, Kaiser, S, Giokas, G, Matamis, D, Yap Hiu Yi, F, Kapadia, F, Iqbal, M, Batoli, T, Costanzo, E, Pistocchini, A, Acquarolo, A, Greco, S, Di Masi, P, Quattrocchi, P, Navarra, M, Rotella, S, Giugiaro, P, Todesco, L, Borromeo, R, Ostando, M, Benassai, C, Pezzi, G, Marchi, M, Luise, C, Di Filippo, A, Mangani, V, Pelagatti, C, Pasetti, G, Salvi, G, Salcuni, R, Marongiu, A, Tavola, M, Rossi, G, Biffali, F, Brunori, E, Piccioni, G, Guadagnucci, A, David, Antonio, Pulici, M, Ughi, F, Sicignano, A, Leggieri, C, Fiore, G, Banfi, G, Lanza, S, Postiglione, M, Bosso, R, Piga, G, Croce, G, Sapuppo, Mf, Giarratano, A, Barbagallo, M, Favetta, P, Gorietti, A, Breschi, C, Andrei, O, Bertolini, R, Bonfà, A, Rossi, S, Asti, A, Rendina, F, Bilotta, F, Azzeri, F, Piacevoli, Q, Hellmann, F, Vaira, C, Avarello, N, Clementi, S, Della Valle, A, Segala, V, Berardino, M, Vaj, M, Sega, P, Bcchi, A, Pizzaballa, Ml, Cohen, J, Sprung, C, Hashimoto, S, Baskiene, R, Mcdonald, J, Sollid, S, Paiva, Ja, Moreno, R, Gloria, C, Yaghi, A, Voga, G, Joo Lee, Y, Zaragoza, R, Valles, J, Gonzalez Diaz, G, Alvarez Lerma, F, Sirvent, Jm, Herve, Z, Romand, Ja, Niblett, D, Laurenson, J, Peters, T, von der Osten, I, and Tomic, V.

Subjects
Adult, Male, Microbiology (medical), medicine.medical_specialty, Pediatrics, Asia, Critical Care, medicine.drug_class, Critical Illness, Antibiotics, Bacteremia, Microbial Sensitivity Tests, Outcome (game theory), Pharmacotherapy, Intensive care, Epidemiology, medicine, Humans, Pharmacology (medical), Prospective Studies, Antibiotic use, Intensive care medicine, bloodstream infections, critically ill patients, prevalence, antibiotic strategy, Aged, Aged, 80 and over, Pharmacology, Australasia, business.industry, Septic shock, Mortality rate, Odds ratio, Middle Aged, South America, medicine.disease, Drug Utilization, Confidence interval, Anti-Bacterial Agents, Europe, Treatment Outcome, Infectious Diseases, Critical illness, Female, business, Fungemia
Abstract

The lack of prospective, randomized, controlled trial data to guide optimal antibiotic use in bacteraemic critically ill patients has led to a wide variety of strategies and major issues with drug resistance. We therefore prospectively investigated the epidemiology of bacteraemia and fungaemia in intensive care units (ICUs); and the impact of timing, type and appropriateness of antibiotic intervention.We conducted a multinational, multicentre, prospective observational study in 132 ICUs from 26 countries with no interventions.1702 patients [European (69.6%), Australasian (12.2%), South American (8.3%) and Asian (9.9%)] developed 1942 bacteraemic episodes over the study period. Mortality rates were similar for those receiving empirical (40.5%), semi-targeted (37.6%) or fully targeted (33.3%) antibiotic therapy (P=0.40), and in those initially receiving broad- (39.3%) or restricted-spectrum (39.1%) therapy (P=0.94). First-line therapy was effective in terms of the antibiogram (where available) in 70.4% of cases. This in vitro susceptibility ranged from 76.3% for broad-spectrum antibiotics to 46.3% for restricted-spectrum antibiotics (P0.0001). However, no antibiotic policy-associated variable, including in vitro susceptibility (odds ratio 0.89, 95% confidence interval 0.61-1.30), was a statistically significant predictor of mortality.We could not show an impact of antibiotics on mortality in critically ill patients, despite in vitro activity and early commencement. Randomized, multicentre trials are urgently needed to establish the appropriate duration, timing and combinations of antibiotics that will both optimally treat infection and minimize development of resistance and other complications.

Published
2010

4. The Quality of Life of Children and Adolescents with X-Linked Agammaglobulinemia

Author

Soresina A., Nacinovich R., Bomba M., Cassani M., Molinaro A., Sciotto A., Martino S., Cardinale F., De Mattia D., Putti C., Dellepiane R.M., Felici L., Parrinello G., Neri F., Plebani A., Pierani P., DeMattia D., Martire B., Armenio L., Dammacco F., Ranieri G., Masi M., Miniaci A., Pession A., Rondelli R., Notarangelo L. D., Cao, Cossu F., Del Giacco S., Manconi P., Evangelista I., Magro S., Morgione S., STRISCIUGLIO, PIETRO, Anastasio E., Schillirò G., Paganelli R., Sticca M., Sperlì D., Carpino L., Bernini G., Azzari C., Maggi E., Romagnani S., Matucci A., Vultaggio A., Castagnola E., Gattorno M., Presta G., Civino A., Gambaretto G., Fasoli S., Salpietro C., Pietrogrande M.C., DellePiane R.M., Panisi C., Cambiaghi G., Pietrogrande M., Roncarolo M.G., Aiuti A., Masera G., Biondi A., Sala A., PIGNATA, CLAUDIO, Poggi V., Menna G., Di Nardo R., D'Apuzzo A., Pelliccia A., Correra A., Marone G., SPADARO, GIUSEPPE, Carli M., Zanesco L., Basso G., Putti M.C., Semenzato G., Agostini C., Amato G.M., Aricò M., Trizzino A., Izzi G., Bertolini P., Locatelli F., Zecca M., Rondini G., Marseglia G.L., Maccario R., Bossi G., Favre C., Consolini R., Vecchi V., Sacchini P., Rinaldi G., Ugazio A.G., Rossi P., Livadiotti S., Cancrini C., Finocchi A., Stabile A., Duse M., Iacobini M., Quinti I., Moschese V., Cecere F., Morgese G., Acquaviva A., De Zan G., Strafella S., Tamaro P., Rabusin M., Tovo P.A., Nespoli L., Marinoni M., Porcellini A., Cazzola G.A., Annarosa, Soresina, Renata, Nacinovich, Monica, Bomba, Morena, Cassani, Molinaro, Anna, Antonella, Sciotto, Silvana, Martino, Fabio, Cardinale, Domenico, Mattia, Caterina, Putti, Rosa Maria, Dellepiane, Leonardo, Felici, Giovanni, Parrinello, Francesca, Neri, Alessandro, Plebani, Soresina, A, Nacinovich, R, Bomba, M, Cassani, M, Molinaro, A, Sciotto, A, Martino, S, Cardinale, F, De Mattia, D, Putti, C, Dellepiane, R, Felici, L, Parrinello, G, Neri, F, Plebani, A, Soresina, A., Nacinovich, R., Bomba, M., Cassani, M., Molinaro, A., Sciotto, A., Martino, S., Cardinale, F., De Mattia, D., Putti, C., Dellepiane, R. M., Felici, L., Parrinello, G., Neri, F., Plebani, A., Pierani, P., Demattia, D., Martire, B., Armenio, L., Dammacco, F., Ranieri, G., Masi, M., Miniaci, A., Pession, A., Rondelli, R., Notarangelo, L. D., Cao, Cossu, F., Del Giacco, S., Manconi, P., Evangelista, I., Magro, S., Morgione, S., Strisciuglio, Pietro, Anastasio, E., Schillirò, G., Paganelli, R., Sticca, M., Sperlì, D., Carpino, L., Bernini, G., Azzari, C., Maggi, E., Romagnani, S., Matucci, A., Vultaggio, A., Castagnola, E., Gattorno, M., Presta, G., Civino, A., Gambaretto, G., Fasoli, S., Salpietro, C., Pietrogrande, M. C., Panisi, C., Cambiaghi, G., Pietrogrande, M., Roncarolo, M. G., Aiuti, A., Masera, G., Biondi, A., Sala, A., Pignata, Claudio, Poggi, V., Menna, G., Di Nardo, R., D'Apuzzo, A., Pelliccia, A., Correra, A., Marone, G., Spadaro, Giuseppe, Carli, M., Zanesco, L., Basso, G., Putti, M. C., Semenzato, G., Agostini, C., Amato, G. M., Aricò, M., Trizzino, A., Izzi, G., Bertolini, P., Locatelli, F., Zecca, M., Rondini, G., Marseglia, G. L., Maccario, R., Bossi, G., Favre, C., Consolini, R., Vecchi, V., Sacchini, P., Rinaldi, G., Ugazio, A. G., Rossi, P., Livadiotti, S., Cancrini, C., Finocchi, A., Stabile, A., Duse, M., Iacobini, M., Quinti, I., Moschese, V., Cecere, F., Morgese, G., Acquaviva, A., De Zan, G., Strafella, S., Tamaro, P., Rabusin, M., Tovo, P. A., Nespoli, L., Marinoni, M., Porcellini, A., and Cazzola, G. A.

Subjects
Male, Pediatrics, medicine.medical_specialty, x-linked agammaglobulinemia, Activities of daily living, Adolescent, X-linked agammaglobulinemia, Health Status, Immunology, pedsql 4.0 generic core scale, Quality of life, children, Agammaglobulinemia, Surveys and Questionnaires, Activities of Daily Living, health-related quality of life, parents, medicine, Humans, Immunology and Allergy, PedsQL 4.0 Generic Core Scale, Child, Settore MED/38 - Pediatria Generale e Specialistica, Health related quality of life, quality of live, business.industry, Immunoglobulins, Intravenous, Genetic Diseases, X-Linked, medicine.disease, Socioeconomic Factors, Child, Preschool, Mutation, Quality of Life, Female, X-linked agammaglobulinemia - children - parents - health-related quality of life - PedsQL 4.0 Generic Core Scale, business
Abstract

Introduction: The health-related quality of life in X-linked agammaglobulinemia was investigated in 25 children and adolescents patients through the Italian version of Pediatric Quality of Life Inventory 4.0 Generic Core Scale for patients aged less then 18 years, comparing child perception to that of the parents and the physician's evaluation. The data were compared with the ones of 80 healthy controls and the literature data of a group of patients with rheumatic diseases. Discussion: The agammaglobulinemia subjects perceived a lower global quality of life than the healthy subjects, but significantly higher than the rheumatic diseases controls. The clinical relevance of health-related quality of life assessment in X-linked agammaglobulinemia pediatric patients is discussed. © 2008 Springer Science+Business Media, LLC.

Published
2009

5. A survey on features of allergic rhinitis in children

Author

Zicari, A, Indinnimeo, L, De Castro, G, Incorvaia, C, Frati, F, Dell'Albani, I, Puccinelli, P, Scolari, M, Duse, M, Ahmad, K, Alessandri, C, Anastasio, E, Baldo, E, Barberi, S, Bernardini, R, Boccafogli, A, Boner, A, Brunetti, L, Caffarelli, C, Capocasale, G, Capra, L, Carbone, M, Cavaliere, C, Celani, C, Cervone, R, Cesoni Marcelli, A, Chini, L, Cortellini, G, Costantino, M, Cutrera, R, Dello Iacono, I, De Vittori, V, Dinella, G, Esposito, S, Ferrarini, E, Ferraro, F, Gelardi, M, Gualtiero, L, La Grutta, S, Lietti, D, Lollobrigida, V, Marinoni, M, Marseglia, G, Masieri, S, Minasi, D, Del Giudice, M, Moschese, V, Nespoli, L, Novembre, E, Occasi, F, Pace, M, Pajno, G, Patria, M, Peroni, D, Ricci, G, Ricciardi, L, Roncallo, C, Santamaria, F, Santucci, A, Sciacca, A, Scala, G, Taddeo, G, Tancredi, G, Tosca, M, Varricchio, A, Zampogna, S, Zicari, Am, Indinnimeo, L, De Castro, G, Incorvaia, C, Frati, F, Dell'Albani, I, Puccinelli, P, Scolari, M, MIRAGLIA DEL GIUDICE, Michele, Duse, M., Zicari, A., Indinnimeo, L., De Castro, G., Incorvaia, C., Frati, F., Dell'Albani, I., Puccinelli, P., Scolari, M., and La Grutta, Stefania.

Subjects
Questionnaires, Male, Pediatrics, medicine.disease_cause, Adrenal Cortex Hormone, Allergic rhinitis, Drug treatment, Allergen, Adrenal Cortex Hormones, Grass pollen, Surveys and Questionnaires, Child, Rhinitis, Allergen immunotherapy, biology, Medicine (all), Pyroglyphidae, General Medicine, Dust mites, Response to treatment, Phenotypes, Phenotype, Italy, Child, Preschool, Female, Adolescent, Animals, Histamine Antagonists, Humans, Rhinitis, Allergic, Seasonal, Histamine Antagonist, Human, allergen immunotherapy, phenotypes, aria classification, allergic rhinitis, drug treatment, medicine.medical_specialty, ARIA classification, Allergic, medicine, Allergic rhiniti, Preschool, Settore MED/38 - Pediatria Generale e Specialistica, Seasonal, business.industry, Animal, Questionnaire, biology.organism_classification, Dermatology, Clinical trial, Multicenter study, business
Abstract

Objective: A number of epidemiologic studies evaluated the prevalence of allergic rhinitis (AR), but few data are available on its different clinical presentations. We addressed this survey to assess the features of AR in children and adolescents. Methods: Thirty-five centers in Italy included 2623 pediatric patients with rhinitis, of whom 2319 suffered from AR, while 304 had other kinds of rhinitis. For each patient a standardized questionnaire was filled in, including ARIA classification, the duration of symptoms, the allergen identified as clinically relevant, the co-morbidities, the kind of treatment, the response to treatment, the satisfaction with the treatment, and the feasibility of allergen immunotherapy (AIT). Results: Of the 2319 patients, 597 (25.7%) had mild intermittent, 701 (30.2%) mild persistent, 174 (7.5%) moderate-severe intermittent, and 773 (33.3%) moderate-severe persistent AR. The allergens most relevant were grass pollen and dust mites. The most frequently used drugs were oral antihistamines (83.1%) and topical corticosteroids (63.5%). The response to treatment was judged as excellent in 13.5%, good in 45.1%, fair in 30.8%, poor in 10%, and very bad in 0.6% of cases. The satisfaction with treatment was judged as very satisfactory in 15.2%, satisfactory in 61.8%, unsatisfactory in 22.4%, and very unsatisfactory in 0.5% of cases. AIT was considered indicated in 53.1% of patients with mild intermittent, 79.2% of moderate-severe intermittent, 72.6% of mild persistent, and 82.7% of moderate-severe persistent AR. Conclusions: The limitation of this study is that the population was not unselected and this prevents epidemiological significance. These results offer confirmation of the adequacy of ARIA guidelines in classifying patients with AR and of the association of severe phenotype with lack of success of drug treatment. © 2013 Informa UK Ltd All rights reserved.

Published
2013

6. 23. Paediatric neuromuscular ultrasound study: Inter-operators agreement.

Author

Molesti, E., Marinoni, M., Lolli, F., Gallerini, A., Trapani, S., and Lori, S.

Subjects
*ULTRASONIC imaging, *TIBIALIS anterior, *BICEPS brachii, *SKELETAL muscle, *PEDIATRICS, *STATISTICS, NEUROMUSCULAR disease diagnosis
Abstract

Paediatric neuromuscolar diseases are clinically heterogeneous, progressive and disabling, often requiring invasive, uncomfortable and expensive investigations. Ultrasonographic evaluation of neuromuscular diseases is an highly specific and sensitive first level screening-tool but only few paediatric normative data were reported. We performed a wide muscular ultrasound (MUS) study on 120 healthy children (2–16 y old), evaluating muscular echogenicity and thickness. All values were indipendently analyzed off-line and measured by two Neurosonologists (SL and EM) upon training and test standardization. The agreement between the two measurements was evaluated by the statistic Bland–Altman test. We report the statistical results obtained with measurements performed by two operators in 20 children. For each subject we analyzed both echogenicity and thickness of 5 muscles: Tibialis Anterior, Rectus Femoris, Biceps brachialis, Flexores of Forearm and Gastrocnemius medialis. The statistical Bland Altman analysis showed no significant differences between the measurements performed by two operators with a negligible bias for both echogenicity’s and thickness’ measurements of all evaluated muscles. These results suggest that our muscular ultrasound (MUS) study protocol, performed after a preliminary training and test standardization, is a reliable technique useful to collect paediatric normative data. [ABSTRACT FROM AUTHOR]

Published
2015
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7. The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)

Author

A G Ugazio, Giovanna Russo, Maria Giovanna Danieli, Alberto Tommasini, Maria Cristina Pietrogrande, Raffaele Badolato, Andrea Pession, Carlo Agostini, Fabio Cardinale, Eleonora Gambineri, Baldassare Martire, Adele Civino, Manuela Baronio, Marco Gattorno, Marco Zecca, Viviana Moschese, Chiara Azzari, Alessio Benvenuto, Marzia Duse, Antonino Trizzino, Luisa Gazzurelli, Isabella Quinti, Vassilios Lougaris, Andrea Matucci, Giuseppe Spadaro, Claudio Lunardi, Angelo Vacca, Roberto Rondelli, Maria Caterina Putti, Luciana Chessa, Giovanna Fabio, Andrea Biondi, Fausto Cossu, Roberto Paganelli, Paolo Rossi, Rita Consolini, Alessandro Aiuti, Gian Luigi Marseglia, Luigi Carpino, Caterina Cancrini, Maddalena Marinoni, Silvana Martino, Claudio Pignata, Annarosa Soresina, Patrizia Bertolini, Alessandro Plebani, Lougaris, V., Pession, A., Baronio, M., Soresina, A., Rondelli, R., Gazzurelli, L., Benvenuto, A., Martino, S., Gattorno, M., Biondi, A., Zecca, M., Marinoni, M., Fabio, G., Aiuti, A., Marseglia, G., Putti, M. C., Agostini, C., Lunardi, C., Tommasini, A., Bertolini, P., Gambineri, E., Consolini, R., Matucci, A., Azzari, C., Danieli, M. G., Paganelli, R., Duse, M., Cancrini, C., Moschese, V., Chessa, L., Spadaro, G., Civino, A., Vacca, A., Cardinale, F., Martire, B., Carpino, L., Trizzino, A., Russo, G., Cossu, F., Badolato, R., Pietrogrande, M. C., Quinti, I., Rossi, P., Ugazio, A., Pignata, C., Plebani, A., Lougaris, V, Pession, A, Baronio, M, Soresina, A, Rondelli, R, Gazzurelli, L, Benvenuto, A, Martino, S, Gattorno, M, Biondi, A, Zecca, M, Marinoni, M, Fabio, G, Aiuti, A, Marseglia, G, Putti, M, Agostini, C, Lunardi, C, Tommasini, A, Bertolini, P, Gambineri, E, Consolini, R, Matucci, A, Azzari, C, Danieli, M, Paganelli, R, Duse, M, Cancrini, C, Moschese, V, Chessa, L, Spadaro, G, Civino, A, Vacca, A, Cardinale, F, Martire, B, Carpino, L, Trizzino, A, Russo, G, Cossu, F, Badolato, R, Pietrogrande, M, Quinti, I, Rossi, P, Ugazio, A, Pignata, C, and Plebani, A

Subjects
Adult, Male, medicine.medical_specialty, Pediatrics, Primary immunodeficiencies, Adolescent, Databases, Factual, Primary Immunodeficiency Diseases, Immunology, Age at diagnosis, History, 21st Century, Combined immunodeficiencies, Young Adult, Medical microbiology, patient registry, Epidemiology, medicine, Prevalence, Immunology and Allergy, Humans, Registries, Geography, Medical, Child, Adult patients, business.industry, Infant, Newborn, Infant, History, 20th Century, medicine.disease, Prognosis, Settore MED/38, Natural history, Italy, Child, Preschool, Population Surveillance, Cohort, Primary immunodeficiency, Original Article, Female, business
Abstract

Primary immunodeficiencies (PIDs) are heterogeneous disorders, characterized by variable clinical and immunological features. National PID registries offer useful insights on the epidemiology, diagnosis, and natural history of these disorders. In 1999, the Italian network for primary immunodeficiencies (IPINet) was established. We report on data collected from the IPINet registry after 20 years of activity. A total of 3352 pediatric and adult patients affected with PIDs are registered in the database. In Italy, a regional distribution trend of PID diagnosis was observed. Based on the updated IUIS classification of 2019, PID distribution in Italy showed that predominantly antibody deficiencies account for the majority of cases (63%), followed by combined immunodeficiencies with associated or syndromic features (22.5%). The overall age at diagnosis was younger for male patients. The minimal prevalence of PIDs in Italy resulted in 5.1 per 100.000 habitants. Mortality was similar to other European registries (4.2%). Immunoglobulin replacement treatment was prescribed to less than one third of the patient cohort. Collectively, this is the first comprehensive description of the PID epidemiology in Italy.

Published
2020

8. Subcutaneous Immunoglobulin in Infantile Chronic Inflammatory Demyelinating Polyneuropathy: A Case Report

Author

Maddalena Marinoni, Massimo Agosti, Silvia Salvatore, Alessandro Salvatoni, Paola Cianci, Angela Berardinelli, Alex Moretti, Cianci, P, Salvatore, S, Moretti, A, Berardinelli, A, Salvatoni, A, Marinoni, M, and Agosti, M

Subjects
Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Chronic inflammatory demyelinating polyneuropathy, Case Report, CIDP, Subcutaneous immunoglobulin, intravenous immunoglobulins, subcutaneous immunoglobulin, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, chronic inflammatory demyelinating polyneuropathy, 0302 clinical medicine, Immune system, Quality of life, intravenous immunoglobulin, medicine, Children, biology, business.industry, General Neuroscience, medicine.disease, Immune Modulators, Intravenous Immunoglobulins, Pediatrics, Perinatology and Child Health, biology.protein, subcutaneous immunoglobulins, Plasmapheresis, Antibody, business, 030217 neurology & neurosurgery
Abstract

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronically progressive or relapsing sensorimotor disorder presumably due to antibody-mediated reactions. It is a rare condition in children, with estimated prevalence as 0.48 per 100,000 among patients younger than 20 years of age. Recommended treatments include immune modulators, intravenous immunoglobulins (IVIgs), steroids, and plasmapheresis. Management of pediatric CIDP is challenging because of the lack of evidence-based efficacy of the current therapies in children. Because of the rarity of this condition, there are no double-blind randomized studies to support the therapeutic choice as well as to identify the optimal first-line therapeutic regimen. IVIgs are widely used but the intravenous administration is usually uncomfortable, especially for children. Subcutaneous immunoglobulins (SCIgs) have proven to be effective in adults with CIDP and in children affected by antibody deficiencies and other different immune and inflammatory disorders. Herein, we described the case of a 7-year-old boy, affected by CIDP who clinically responded to IVIg but was dependent on this therapy. In order to improve his quality of life, we switched to SCIg with excellent result.

Published
2019

9. Association of Immune Thrombocytopenia and Coeliac Disease in Children (Retrospective Case Control Study)

Author

Francesca Romano, Saverio Ladogana, Irene D'Alba, Elena Facchini, Chiara Gorio, Lucia Dora Notarangelo, Ilaria Fotzi, Ugo Ramenghi, Giovanna Russo, Gianluca Dell'Orso, Elisa Bertoni, Angelica Barone, Paola Giordano, Paola Saracco, Francesca Compagno, Piero Farruggia, Angela Petrone, Maddalena Marinoni, Giuseppe Lassandro, Maddalena Casale, Silverio Perrotta, Marco Spinelli, Marco Zecca, Assunta Tornesello, Gianluca Boscarol, Milena Motta, Maurizio Miano, Angela Guarina, Angela Maggio, Elena Chiocca, Giuseppe Puccio, Silvia Salvatore, Guarina, A., Marinoni, M., Lassandro, G., Saracco, P., Perrotta, S., Facchini, E., Notarangelo, L. D., Russo, G., Giordano, P., Romano, F., Bertoni, E., Gorio, C., Boscarol, G., Motta, M., Spinelli, M., Barone, A., Zecca, M., Compagno, F., Ladogana, S., Maggio, A., Miano, M., Dell'Orso, G., Chiocca, E., Fotzi, I., Petrone, A., Tornesello, A., D'Alba, I., Salvatore, S., Casale, M., Puccio, G., Ramenghi, U., and Farruggia, P.

Subjects
Pediatrics, medicine.medical_specialty, Celiac, thrombocytopenia, Disease, Coeliac disease, Immune system, children, immune system diseases, hemic and lymphatic diseases, Children, Immune, Pediatric, Thrombocytopenia, medicine, Humans, Inosine Triphosphate, Child, Purpura, Retrospective Studies, Purpura, Thrombocytopenic, Idiopathic, business.industry, Case-control study, coeliac, Idiopathic, Hematology, Case-Control Studies, Celiac Disease, medicine.disease, Immune thrombocytopenia, Thrombocytopenic, pediatric, Multicenter study, Cohort, immune, business, Research Article
Abstract

The association between celiac disease (CD) and immune thrombocytopenia (ITP) is still uncertain. The aim of this study was to characterize the coexistence of these two diseases in Italian children.This is a retrospective multicenter study investigating the occurrence of CD in 28 children with ITP diagnosed from January 1, 2000, to December 31, 2019.The first diagnosis was ITP in 57.1% and CD in 32.1% of patients. In 3 patients (10.7%), the two diagnoses were simultaneous. All the potential and silent cases of CD in our cohort were diagnosed in the groups of “ITP first” and “simultaneous diagnosis”. In all children ITP was mild, and in 2 out of 8 not recovered from ITP at the time of CD diagnosis a normalization of platelet counts (100,000/μL) occurred 3 and 5 months after starting a gluten-free diet, respectively.We think that screening for CD should be considered in children with ITP regardless of the presence of gastrointestinal symptoms. Furthermore, some patients may recover from ITP after starting a gluten-free diet.İmmün trombositopeni (İTP) ve çölyak hastalığı (ÇH) arasındaki ilişki hala belirsizliğini korumaktadır. Bu çalışmanın amacı İtalyan çocuklarında bu iki hastalık arasındaki ilişkiyi ortaya koymaktır.Bu çalışma, 1 Ocak 2000’den 31 Aralık 2019’a kadar İTP tanısına ek olarak ÇH tanısı alan 28 çocuğun araştırıldığı geriye dönük çok merkezli bir çalışmadır.Hastaların %57,1’inde ilk tanı İTP ve %32,1’inde ÇH idi. Üç hastada (%10,7) iki tanı aynı anda konulmuştu. Kohortumuzdaki tüm potansiyel ve sessiz ÇH olguları “önce İTP” ve “eşzamanlı tanı” gruplarında teşhis edildi. Tüm çocuklarda İTP hafifti ve ÇH tanısı sırasında trombositopenisi devam eden 8 çocuktan 2’sinde, glutensiz diyete başladıktan sonra sırasıyla 3 ve 5 ayda trombosit sayılarında normalleşme (100.000/μL) görüldü.Bu çalışma İTP’li çocuklarda gastrointestinal semptomların varlığına bakılmaksızın ÇH taramasının yapılması gerektiğini düşündürmektedir. Bazı hastalarda trombosit sayılarının glutensiz bir diyete başladıktan sonra düzelebileceği akılda bulundurulmalıdır.

Published
2021

10. Children with cancer in the time of COVID‐19: An 8‐week report from the six pediatric onco‐hematology centers in Lombardia, Italy

Author

Laura Rachele Bettini, Federica Bruni, Monica Terenziani, Mariella D'Angiò, Michela Casanova, Carmelo Rizzari, Marco Zecca, Massimo Provenzi, Maura Massimino, Adriana Balduzzi, Chiara Piccolo, Fulvio Porta, Roberto Luksch, Maddalena Marinoni, Andrea Biondi, Andrea Ferrari, Giulia Maria Ferrari, Richard Fabian Schumacher, Francesca Compagno, Stefano Chiaravalli, Filippo Spreafico, Ferrari, A, Zecca, M, Rizzari, C, Porta, F, Provenzi, M, Marinoni, M, Schumacher, R, Luksch, R, Terenziani, M, Casanova, M, Spreafico, F, Chiaravalli, S, Compagno, F, Bruni, F, Piccolo, C, Bettini, L, D'Angiò, M, Ferrari, G, Biondi, A, Massimino, M, and Balduzzi, A

Subjects
medicine.medical_specialty, 2019-20 coronavirus outbreak, Pediatrics, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Pneumonia, Viral, Medical Oncology, Betacoronavirus, pediatric, childhood, COVID, SARS-CoV-2, hematology, oncology, Internal medicine, medicine, Humans, Pediatrics, Perinatology, and Child Health, Child, Pandemics, Hematology, SARS-CoV-2, business.industry, COVID-19, Cancer, medicine.disease, Italy, Oncology, Pediatrics, Perinatology and Child Health, Coronavirus Infections, business
Published
2020
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11. Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality

Author

Ludovica Crescenzi, Emilia Cirillo, Alessio Benvenuto, Fabio Cardinale, Andrea Pession, Federica Pulvirenti, Simona Ferrari, Maria Caterina Putti, Giovanna Fabio, Rita Consolini, Fausto Cossu, Andrea Finocchi, Stefano Volpi, Angelo Vacca, Carolina Marasco, Marco Zecca, Claudio Pignata, Viviana Moschese, Gigliola Di Matteo, Lucia Leonardi, Raffaele Badolato, Marzia Duse, A G Ugazio, Manuela Baronio, Maddalena Marinoni, Chiara Azzari, Sara Signa, Silvana Martino, Maria Licciardello, Rosa Maria Dellepiane, Lucia Augusta Baselli, Luisa Gazzurelli, Giuseppe Spadaro, Claudio Lunardi, Cinzia Milito, Baldassare Martire, Alessandro Plebani, Francesca Conti, Caterina Cancrini, Maria Carrabba, Patrizia Bertolini, Francesco Cinetto, Davide Montin, Antonino Trizzino, Isabella Quinti, Vassilios Lougaris, Annarosa Soresina, Silvia Ricci, Silvia Giliani, Lougaris, V., Soresina, A., Baronio, M., Montin, D., Martino, S., Signa, S., Volpi, S., Zecca, M., Marinoni, M., Baselli, L. A., Dellepiane, R. M., Carrabba, M., Fabio, G., Putti, M. C., Cinetto, F., Lunardi, C., Gazzurelli, L., Benvenuto, A., Bertolini, P., Conti, F., Consolini, R., Ricci, S., Azzari, C., Leonardi, L., Duse, M., Pulvirenti, F., Milito, C., Quinti, I., Cancrini, C., Finocchi, A., Moschese, V., Cirillo, E., Crescenzi, L., Spadaro, G., Marasco, C., Vacca, A., Cardinale, F., Martire, B., Trizzino, A., Licciardello, M., Cossu, F., Di Matteo, G., Badolato, R., Ferrari, S., Giliani, S., Pession, A., Ugazio, A., Pignata, C., and Plebani, A.

Subjects
Lung Diseases, Male, 0301 basic medicine, Pediatrics, X-linked agammaglobulinemia, Bruton tyrosine kinase, 0302 clinical medicine, Bruton’s tyrosin kinase, Agammaglobulinemia, Immunology and Allergy, Medicine, Child, biology, Incidence (epidemiology), Chronic sinusitis, Genetic Diseases, X-Linked, Middle Aged, Settore MED/38, Natural history, Italy, chronic lung disease, Genetic Diseases, Child, Preschool, Adolescent, Adult, Follow-Up Studies, Humans, Infant, Infant, Newborn, Infections, Sinusitis, Survival Analysis, Young Adult, Antibody, medicine.medical_specialty, Long term follow up, Immunology, 03 medical and health sciences, Preschool, business.industry, X-Linked, Newborn, medicine.disease, 030104 developmental biology, Lung disease, Primary immunodeficiency, biology.protein, business, 030215 immunology
Abstract

Background X-linked agammaglobulinemia (XLA) is the prototype of primary humoral immunodeficiencies. Long-term follow-up studies regarding disease-related complications and outcome are scarce. Objective Our aim was to describe the natural history of XLA. Methods A nationwide multicenter study based on the Italian Primary Immunodeficiency Network registry was established in 2000 in Italy. Affected patients were enrolled by documenting centers, and the patients' laboratory, clinical, and imaging data were recorded on an annual base. Results Data on the patients (N = 168) were derived from a cumulative follow-up of 1370 patient-years, with a mean follow-up of 8.35 years per patient. The mean age at diagnosis decreased after establishment of the Italian Primary Immunodeficiency Network registry (84 months before vs 23 months after). Respiratory, skin, and gastrointestinal manifestations were the most frequent clinical symptoms at diagnosis and during long-term follow-up. Regular immunoglobulin replacement treatment reduced the incidence of invasive infections. Affected patients developed chronic lung disease over time (47% after 40 years of follow-up) in the presence of chronic sinusitis (84%). Malignancies were documented in a minority of cases (3.7%). Overall survival for affected patients was significantly reduced when compared with that for the healthy male Italian population, and it further deteriorated in the presence of chronic lung disease. Conclusions This is the first detailed long-term follow-up study for patients with XLA, revealing that although immunoglobulin replacement treatment reduces the incidence of invasive infections, it does not appear to influence the development of chronic lung disease. The overall survival of affected patients is reduced. Further studies are warranted to improve patients' clinical management and increase awareness among physicians.

Published
2020

12. Improving outcomes for children with cancer in low-income countries in Latin America: a report on the recent meetings of the Monza International School of Pediatric Hematology/Oncology (MISPHO)-Part I

Author

Federico Antillon, Marco Marinoni, Ching-Hon Pui, Ronald D. Barr, Scott C. Howard, Alessandra Sala, Giuseppe Masera, Maria Grazia Valsecchi, Sandra Luna-Fineman, Raul C. Ribeiro, Luis Castillo, Gianni Tognoni, Miguel Bonilla, Howard, S, Marinoni, M, Castillo, L, Bonilla, M, Tognoni, G, Luna Fineman, S, Antillon, F, Valsecchi, M, Pui, C, Ribeiro, R, Sala, A, Barr, R, and Masera, G

Subjects
Acute promyelocytic leukemia, Registrie, Pediatrics, medicine.medical_specialty, Adolescent, Prognosi, International Cooperation, Pediatric Hematology/Oncology, Cancer Care Facilities, Medical Oncology, Information Service, Internal medicine, Neoplasms, medicine, Humans, Registries, Cooperative Behavior, Rhabdomyosarcoma, Intensive care medicine, Child, Pediatric, Information Services, Terminal Care, Hematology, business.industry, Cancer Care Facilitie, Cancer, Disease Management, Infant, medicine.disease, Prognosis, Pediatric cancer, Survival Analysis, Regimen, Latin America, Nutrition Assessment, Oncology, Italy, Withholding Treatment, Child, Preschool, Pediatrics, Perinatology and Child Health, Quality of Life, Neoplasm, Survival Analysi, Outcomes research, business, Human
Abstract

Pediatric cancer programs in low-income countries (LIC) can improve outcomes. However, treatment must be tailored to the patient's living conditions and the availability of supportive care. In some cases, a more intense regimen will decrease survival since the increase in death from toxicity may exceed any decrease in relapse. Attempts to practice evidence-based pediatric oncology are thwarted by the lack of evidence derived from local experience in LIC to determine optimal therapy. This report summarizes treatment regimens used by pediatric oncologists from 15 countries of the Caribbean, Central and South America who participate in the Monza International School of Pediatric Hematology/Oncology (MISPHO). Patients with hepatoblastoma, Wilms tumor, and histiocytosis treated on unmodified published protocols had outcomes comparable to those in high-income countries (HIC). Those with rhabdomyosarcoma, osteosarcoma, Hodgkin lymphoma, and acute myeloid leukemia treated with unmodified regimens had event-free survival estimates 10%-20% lower than those reported in HIC due to higher rates of toxic death, abandonment of therapy, and relapse. Treatment of retinoblastoma is complicated by advanced stages and extraocular disease at diagnosis; improved outcomes depend on education of pediatricians and the public to recognize early signs of this disease. Use of unmodified protocols for Burkitt lymphoma and acute lymphoblastic leukemia have been associated with unacceptable toxicity in LIC, so MISPHO centers have modified published regimens by giving lower doses of methotrexate and reducing use of anthracyclines. Despite the use of all-trans-retinoic acid during induction for acute promyelocytic leukemia, the incidence of fatal hemorrhage remains unacceptably high.

Published
2006

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